ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2214C>T (p.Tyr738=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003182867 SCV003867898 likely benign Hereditary cancer-predisposing syndrome 2023-02-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003761634 SCV004534011 likely benign Renal cell carcinoma 2023-03-01 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004596575 SCV005090773 likely benign not specified 2024-07-31 criteria provided, single submitter clinical testing

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